Canonical Allele Identifier: CA2665621890

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570267-ATACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570271_48570274del , CM000665.2:g.48570271_48570274del	GRCh38
NC_000003.11:g.48607704_48607707del , CM000665.1:g.48607704_48607707del	GRCh37
NC_000003.10:g.48582708_48582711del	NCBI36
NG_007065.1:g.29982_29985del , LRG_286:g.29982_29985del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7440+4_7440+7del MANE Select	ENSP00000506558.1:n.7440+4_7440+7del
ENST00000328333.12:c.7440+4_7440+7del	ENSP00000332371.8:n.7440+4_7440+7del
ENST00000422991.1:c.435+4_435+7del	ENSP00000391608.1:n.435+4_435+7del
ENST00000459756.5:n.171_174del
ENST00000467985.1:n.194_197del
ENST00000487017.5:n.4079+4_4079+7del
NM_000094.3:c.7440+4_7440+7del , LRG_286t1:c.7440+4_7440+7del	NP_000085.1:n.7440+4_7440+7del
XM_011533336.1:c.7467+4_7467+7del	XP_011531638.1:n.7467+4_7467+7del
XM_011533337.1:c.7440+4_7440+7del	XP_011531639.1:n.7440+4_7440+7del
XM_011533338.1:c.7408-93_7408-90del	XP_011531640.1:n.7408-93_7408-90del
XM_011533339.1:c.7467+4_7467+7del	XP_011531641.1:n.7467+4_7467+7del
XM_011533340.1:c.7408-19_7408-16del	XP_011531642.1:n.7408-19_7408-16del
XM_011533341.1:c.7382-19_7382-16del	XP_011531643.1:n.7382-19_7382-16del
XM_011533342.1:c.7382-93_7382-90del	XP_011531644.1:n.7382-93_7382-90del
XR_940369.1:n.7503+4_7503+7del
XR_940370.1:n.7503+4_7503+7del
XR_940371.1:n.7503+4_7503+7del
XR_940372.1:n.7477+4_7477+7del
XM_017005688.1:c.7381-93_7381-90del	XP_016861177.1:n.7381-93_7381-90del
XM_017005689.1:c.7440+4_7440+7del	XP_016861178.1:n.7440+4_7440+7del
XM_017005690.1:c.7381-19_7381-16del	XP_016861179.1:n.7381-19_7381-16del
XM_017005691.1:c.7355-19_7355-16del	XP_016861180.1:n.7355-19_7355-16del
XM_017005692.1:c.7355-93_7355-90del	XP_016861181.1:n.7355-93_7355-90del
XR_001740003.1:n.7476+4_7476+7del
XR_001740004.1:n.7476+4_7476+7del
XR_001740005.1:n.7476+4_7476+7del
XR_001740006.1:n.7450+4_7450+7del
NM_000094.4:c.7440+4_7440+7del MANE Select	NP_000085.1:n.7440+4_7440+7del